X-linked intellectual disability due to GRIA3 mutations

Get in touch with RARE Concierge.

Contact RARE Concierge

X-linked intellectual disability due to GRIA3 mutations

A rare genetic X-linked syndromic intellectual disability disorder characterized by moderate to severe intellectual disability associated with epilepsy short stature autistic features and behavioral problems such as self injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly prominent supraorbital ridges and deep set eyes. Additional variable manifestations include malposition of feet asthenic habitus hyporeflexia bowel occlusions hydronephrosis ren arcuatus delayed motor development and disturbed sleep-wake cycle.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

Newly diagnosed with
X-linked intellectual disability due to GRIA3 mutations?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

GRIN Europe

GRIN Europe is a valuable resource for parents navigating life with a GRIN child, playing an important role in expanding knowledge about GRIN disorders and increasing visibility globally. We support research projects, facilitate clinical trials, and foster essential connections between researchers, clinicians, and parents. GRIN Europe has years of experience organizing conferences.

Clinical Trials

For a list of clinical trials in this disease area, please click here.